IL23R (Interleukin-23 receptor) variants and mutations

IL23R (also known as Interleukin-23 receptor) is a human protein-coding gene encoding an interleukin-23 receptor protein. It enables lymphocytes to respond to IL-23 and maintain Th17-type inflammatory programs. Common variants can strongly modify inflammatory bowel disease risk, and therapeutic interruption of IL-23 signaling is effective in several immune-mediated disorders. This analysis covers 888 IL23R variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes inflammatory bowel disease, psoriasis, and Crohn disease. Example IL23R variants include N2D, N2T, and N2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IL23R variants

Examples include N2D, N2T, N2N, Q3H, Q3R, V4A, V4S, V4D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.